NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) AND Tetralogy of Fallot

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2010
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002310991.2

Allele description [Variation Report for NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)]

NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)

Gene:

TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)

HGVS:

NC_000022.11:g.19766778_19766807dup
NG_009229.1:g.15076_15105dup
NM_001379200.1:c.1426_1455dupMANE SELECT
NM_005992.1:c.1009+776_1009+805dup
NM_080646.2:c.1009+776_1009+805dup
NM_080647.1:c.1399_1428dup
NP_001366129.1:p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
NP_542378.1:p.Ala476_Asn477insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
LRG_226t1:c.1399_1428dup
LRG_226:g.15076_15105dup
LRG_226p1:p.Ala476_Asn477insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
NC_000022.10:g.19754288_19754289insGCCGCGGCCGCCGCCGCCGCTGCCGCAGCT
NC_000022.10:g.19754301_19754330dup

Links:

OMIM: 602054.0006; dbSNP: rs746335599

NCBI 1000 Genomes Browser:

rs746335599

Molecular consequence:

NM_001379200.1:c.1426_1455dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_080647.1:c.1399_1428dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_005992.1:c.1009+776_1009+805dup - intron variant - [Sequence Ontology: SO:0001627]
NM_080646.2:c.1009+776_1009+805dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Tetralogy of Fallot (TOF)
Synonyms:: Fallot tetralogy
Identifiers:: MONDO: MONDO:0008542; MedGen: C0039685; Orphanet: 3303; OMIM: 187500; Human Phenotype Ontology: HP:0001636

Recent activity

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Mus musculus cell division cycle 34 (Cdc34), transcript variant 1, mRNA
Mus musculus cell division cycle 34 (Cdc34), transcript variant 1, mRNA
gi|31341237|ref|NM_177613.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028209	OMIM	no assertion criteria provided	Pathogenic (May 1, 2010)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028209

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2010)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A.

J Med Genet. 2010 May;47(5):321-31. doi: 10.1136/jmg.2009.070391. Epub 2009 Nov 30.

PubMed [citation]

PMID:: 19948535

Details of each submission

From OMIM, SCV000028209.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Turkish patient with tetralogy of Fallot (187500), Rauch et al. (2010) identified a heterozygous 30-bp duplication (1399_1428dup30) in exon 9c of the TBX1 gene. She had facial asymmetry, scoliosis, absent pulmonary vein, isolated left pulmonary artery, ventricular septal defect, and normal cognitive development. She did not have the facial gestalt of 22q11.2 deletion syndrome. The insertion was shown to result in the expansion of a polyalanine tract, which caused decreased transcriptional activity and cytoplasmic aggregation of the protein in cellular studies.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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